Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121909484
rs121909484
SLC33A1 ; LOC105374174
1.000 0.080 3 155853659 missense variant A/C snv
CUI: C2675528
Disease: Spastic Paraplegia 42, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant 		0.800 1.000 2 2008 2015
dbSNP: rs281875283
rs281875283
SLC33A1 ; LOC105374174
1.000 3 155853670 missense variant C/G snv
CUI: C3280965
Disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION 		0.800 1.000 1 2012 2012